Recombinant Human Alx1 protein (ab159945)
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Description
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Product name
Recombinant Human Alx1 protein -
Expression system
Wheat germ -
Protein length
Full length protein -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Sequence
MEFLSEKFALKSPPSKNSDFYMGAGGPLEHVMETLDNESFYSKASAGKCV QAFGPLPRAEHHVRLERTSPCQDSSVNYGITKVEGQPLHTELNRAMDNCN SLRMSPVKGMQEKGELDELGDKCDSNVSSSKKRRHRTTFTSLQLEELEKV FQKTHYPDVYVREQLALRTELTEARVQVWFQNRRAKWRKRERYGQIQQAK SHFAATYDISVLPRTDSYPQIQNNLWAGNASGGSVVTSCMLPRDTSSCMT PYSHSPRTDSSYTGFSNHQNQFSHVPLNNFFTDSLLTGATNGHAFETKPE FERRSSSIAVLRMKAKEHTANISWAM -
Amino acids
1 to 326 -
Tags
GST tag N-Terminus
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Specifications
Our Abpromise guarantee covers the use of ab159945 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Applications
Western blot
ELISA
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Form
Liquid -
Additional notes
Protein concentration is above or equal to 0.05 mg/ml. -
Concentration information loading...
Preparation and Storage
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Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00
Constituents: 0.31% Glutathione, 0.79% Tris HCl
General Info
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Alternative names
- ALX homeobox 1
- ALX homeobox protein 1
- ALX1
see all -
Function
Transcriptional activator that acts at a palindromic recognition sequence to enhance the activity of the SV40 and TK promoters. Functions as a repressor with the prolactin promoter in vivo. May play a role in chondrocyte differentiation and may also influence cervix development. -
Tissue specificity
Cartilage and cervix tissue. -
Involvement in disease
Defects in ALX1 are the cause of frontonasal dysplasia type 3 (FND3) [MIM:613456]. The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. -
Sequence similarities
Belongs to the paired homeobox family.
Contains 1 homeobox DNA-binding domain. -
Post-translational
modificationsAcetylated at Lys-131 by EP300, leading to increased interaction with EP300 and enhances transcriptional activation activity. -
Cellular localization
Nucleus. - Information by UniProt
Images
Datasheets and documents
References
ab159945 has not yet been referenced specifically in any publications.